Associated Papers
Genetic and clinical insights into ALS8: exploring the impact of VAPB pathogenic variants in familial amyotrophic lateral sclerosis.
Reis AHO et al.
Arquivos De Neuro-psiquiatria, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Disclosing Pathogenic Variant Effects on the Structural Dynamics of the VAPB MSP Domain Causing Familial ALS.
Bashar MA et al.
International Journal of Molecular Sciences, 2025
Structural and functional studies of the VAPB-PTPIP51 ER-mitochondria tethering proteins in neurodegenerative diseases.
Blair K et al.
Acta Neuropathologica Communications, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Pathogenic mechanisms of amyotrophic lateral sclerosis-linked VAPB P56S mutation in the degeneration of corticospinal motor neurons.
Yang X et al.
Ageing and Neurodegenerative Diseases, 2025
Secretion of endoplasmic reticulum protein VAPB/ALS8 requires topological inversion.
Kamemura K et al.
Nature Communications, 2024
ARTC1-mediated VAPB ADP-ribosylation regulates calcium homeostasis.
Ma X et al.
Journal of Molecular Cell Biology, 2024
Spinal cord neurone loss and foot placement changes in a rat knock-in model of amyotrophic lateral sclerosis Type 8.
Murage B et al.
Brain Communications, 2024
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
VAP Proteins - From Organelle Tethers to Pathogenic Host Interactors and Their Role in Neuronal Disease.
Kors S et al.
Frontiers in Cell and Developmental Biology, 2022
Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives.
Bonifacino T et al.
International Journal of Molecular Sciences, 2021
Phenotypic heterogeneity in amyotrophic lateral sclerosis type 8 and modifying mechanisms of neurodegeneration.
Oliveira D et al.
Neural Regeneration Research, 2021
VPS13D interacts with VCP/p97 and negatively regulates endoplasmic reticulum-mitochondria interactions.
Du Y et al.
Molecular Biology of the Cell, 2021
Amyotrophic lateral sclerosis-associated Vap33 is required for maintaining neuronal dendrite morphology and organelle distribution in Drosophila.
Kamemura K et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2021
An ESCRT-dependent step in fatty acid transfer from lipid droplets to mitochondria through VPS13D-TSG101 interactions.
Wang J et al.
Nature Communications, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
VAMP associated proteins are required for autophagic and lysosomal degradation by promoting a PtdIns4P-mediated endosomal pathway.
Mao D et al.
Autophagy, 2019
Multiple functions of the ER-resident VAP and its extracellular role in neural development and disease.
Kamemura K et al.
Journal of Biochemistry, 2019
Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration.
Maurel C et al.
Molecular Neurobiology, 2018
A novel mutation of VAPB in one Chinese familial amyotrophic lateral sclerosis pedigree and its clinical characteristics.
Sun YM et al.
Journal of Neurology, 2017
Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum.
Shahheydari H et al.
Frontiers in Molecular Neuroscience, 2017
Neuronal overexpression of human VAPB slows motor impairment and neuromuscular denervation in a mouse model of ALS.
Kim JY et al.
Human Molecular Genetics, 2016
Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation.
Di L et al.
Journal of Neurology, 2016
Phosphatidylinositol and phosphatidic acid transport between the ER and plasma membrane during PLC activation requires the Nir2 protein.
Kim YJ et al.
Biochemical Society Transactions, 2016
Cognitive impairment in amyotrophic lateral sclerosis, clues from the SOD1 mouse.
Spalloni A et al.
Neuroscience and Biobehavioral Reviews, 2016
Forward Genetic Screen in Caenorhabditis elegans Suggests F57A10.2 and acp-4 As Suppressors of C9ORF72 Related Phenotypes.
Wang X et al.
Frontiers in Molecular Neuroscience, 2016
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
Kun-Rodrigues C et al.
Human Molecular Genetics, 2015
Autophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALS.
Navone F et al.
Cells, 2015
The BioPlex Network: A Systematic Exploration of the Human Interactome.
Huttlin EL et al.
Cell, 2015
Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.
Marangi G et al.
Brain Research, 2015
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis.
Vinay Kumar C et al.
Journal of Theoretical Biology, 2014
Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.
Su XW et al.
Muscle & Nerve, 2014
First evidence of pathogenicity of V234I mutation of hVAPB found in Amyotrophic Lateral Sclerosis.
Chattopadhyay D et al.
Biochemical and Biophysical Research Communications, 2014
Expression of vesicle-associated membrane-protein-associated protein B cleavage products in peripheral blood leukocytes and cerebrospinal fluid of patients with sporadic amyotrophic lateral sclerosis.
Deidda I et al.
European Journal of Neurology, 2014
Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles.
Sanhueza M et al.
Biology Open, 2014
No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland.
Ingre C et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013
Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons.
Aliaga L et al.
Human Molecular Genetics, 2013
Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil.
Kosac V et al.
Arquivos De Neuro-psiquiatria, 2013
Genetics of amyotrophic lateral sclerosis: an update.
Chen S et al.
Molecular Neurodegeneration, 2013
Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.
Kabashi E et al.
Human Molecular Genetics, 2013
ALS-causing P56S mutation and splicing variation on the hVAPB MSP domain transform its β-sandwich fold into lipid-interacting helical conformations.
Qin H et al.
Biochemical and Biophysical Research Communications, 2013
Widespread aggregation of mutant VAPB associated with ALS does not cause motor neuron degeneration or modulate mutant SOD1 aggregation and toxicity in mice.
Qiu L et al.
Molecular Neurodegeneration, 2013
VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.
van Blitterswijk M et al.
Neurobiology of Aging, 2012
Restructured endoplasmic reticulum generated by mutant amyotrophic lateral sclerosis-linked VAPB is cleared by the proteasome.
Papiani G et al.
Journal of Cell Science, 2012